Rare mtDNA haplogroups of North Asia

From the paper:

The results of our study provided an additional support for the existence of limited maternal gene flow between eastern Asia/southern Siberia and eastern Europe revealed by analysis of modern and ancient mtDNAs previously [12], [37], [39], [48], [42], [58], [59]. Two more mtDNA subclusters which may be indicative of eastern Asian influx into gene pool of eastern Europeans have been revealed within haplogroups M10 and N9a. The presence of N9a3a subcluster only in eastern European populations may indicate that it could arose there after the arrival of founder mtDNA from eastern Asia about 8–13 kya. It is noteworthy that another eastern Asian specific lineage, C5c1, revealed exclusively in some European populations (Poles, Belorussians, Romanians), shows evolutionary ages within frames of 6.6–11.8 kya depending on the mutation rates values [12]. In addition, recent molecular-genetic study of the Neolithic skeletons from archaeological sites in the Alföld (Hungary) has demonstrated high frequency of eastern Asian mtDNA haplogroups in ancient inhabitants of the Carpathian Basin [42]. Specifically, haplogroups N9a and C5 were also revealed in remains, thus indicating that genetic continuity for some eastern Asian mtDNA lineages in Europeans is possible from the Neolithic Period. Prehistoric migrations associated with the distribution of the pottery-making tradition initially emerged in the forest-steppe belt of northern Eurasia starting at about 16 kya and spread to the west to reach the south-eastern confines of eastern European Plain by about 8 kya [60] could be suggested as a potential cause for eastern Asian mtDNA haplogroups appearance in Europe. More information from complete mtDNA sequences as well as the other genetic markers in the contemporary and extinct populations of Eurasia would be helpful to validate our conclusions.

PLoS ONE 7(2): e32179. doi:10.1371/journal.pone.0032179

Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe

Miroslava Derenko et al.

With the aim of uncovering all of the most basal variation in the northern Asian mitochondrial DNA (mtDNA) haplogroups, we have analyzed mtDNA control region and coding region sequence variation in 98 Altaian Kazakhs from southern Siberia and 149 Barghuts from Inner Mongolia, China. Both populations exhibit the prevalence of eastern Eurasian lineages accounting for 91.9% in Barghuts and 60.2% in Altaian Kazakhs. The strong affinity of Altaian Kazakhs and populations of northern and central Asia has been revealed, reflecting both influences of central Asian inhabitants and essential genetic interaction with the Altai region indigenous populations. Statistical analyses data demonstrate a close positioning of all Mongolic-speaking populations (Mongolians, Buryats, Khamnigans, Kalmyks as well as Barghuts studied here) and Turkic-speaking Sojots, thus suggesting their origin from a common maternal ancestral gene pool. In order to achieve a thorough coverage of DNA lineages revealed in the northern Asian matrilineal gene pool, we have completely sequenced the mtDNA of 55 samples representing haplogroups R11b, B4, B5, F2, M9, M10, M11, M13, N9a and R9c1, which were pinpointed from a massive collection (over 5000 individuals) of northern and eastern Asian, as well as European control region mtDNA sequences. Applying the newly updated mtDNA tree to the previously reported northern Asian and eastern Asian mtDNA data sets has resolved the status of the poorly classified mtDNA types and allowed us to obtain the coalescence age estimates of the nodes of interest using different calibrated rates. Our findings confirm our previous conclusion that northern Asian maternal gene pool consists of predominantly post-LGM components of eastern Asian ancestry, though some genetic lineages may have a pre-LGM/LGM origin.

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